ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.628C>T (p.Arg210Trp) (rs1490728700)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617459 SCV000738664 uncertain significance Cardiovascular phenotype 2017-04-03 criteria provided, single submitter clinical testing Insufficient evidence
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198012 SCV001368797 uncertain significance Epicanthus; Interrupted aortic arch; Short neck; Lop ear; Broad neck; Strabismus; Ankyloblepharon 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM. This variant was detected in heterozygous state.

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